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CASE REPORT
Unusual finding in the karyotype of a neonate with glandular hypospadias with chordee
  1. Viraraghavan Vadakkencherry Ramaswamy,
  2. Gajanan Venkat Rao,
  3. Nori Suryanarayana and
  4. Sanghamitra Gummadapu
  1. Department of Neonatology, Nori Multispeciality Hospital, Vijayawada, Andhra Pradesh, India
  1. Correspondence to Dr Viraraghavan Vadakkencherry Ramaswamy, 19.viraram{at}gmail.com

Abstract

A 37-week, 2700 g vaginally delivered baby was admitted for respiratory distress which was attributed to transient tachypnoea of newborn. A clinical finding of glandular hypospadias with ventral chordee was detected. The penis was normal in size, and gonads were palpable bilaterally in the scrotal sac. The parents were informed of the good prognosis associated with this milder variety of hypospadias. In view of parental concerns, a fluorescent in situ hybridisation (FISH) for X and Y chromosome was performed. Surprisingly, FISH revealed the presence of 46, XY in 90% of cells and 46, XX in 10% of the remainder cells suggesting a diagnosis of chimerism.

  • endocrinology
  • neonatal intensive care
  • infant health
  • neonatal health
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Footnotes

  • Contributors VVR and GVR were involved in the clinical care and in the counselling of the family. NS critically reviewed the manuscript. SG was involved in the writing of the manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Patient consent for publication Parental/guardian consent obtained.

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